Case Reports
8 January 2025
Early Access
https://doi.org/10.4081/dr.2025.10127

Localized variant of junctional epidermolysis bullosa with R795X mutation

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Epidermolysis bullosa, bullous disease
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Stefano Bighetti
s.bighetti@unibs.it
https://orcid.org/0009-0006-2781-6909
Dermatology Department, University of Brescia, ASST Spedali Civili di Brescia, Italy.
Luca Bettolini
https://orcid.org/0000-0003-4374-802X
Dermatology Department, University of Brescia, ASST Spedali Civili di Brescia, Italy.
Sara Rovaris
https://orcid.org/0000-0001-5454-4220
Dermatology Department, University of Brescia, ASST Spedali Civili di Brescia, Italy.
Antonio Novelli
https://orcid.org/0000-0002-9037-4297
Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, Rome, Italy.
Paolo Incardona
Pathology Department, University of Brescia, ASST Spedali Civili di Brescia, Italy.
Piergiacomo Calzavara-Pinton
https://orcid.org/0000-0002-0935-7204
Dermatology Department, University of Brescia, ASST Spedali Civili di Brescia, Italy.
Simone Caravello
Dermatology Department, Ospedale di Circolo e Fondazione Macchi, ASST Sette Laghi, Varese, Italy.
Vincenzo Maione
https://orcid.org/0000-0002-0420-5009
Dermatology Department, University of Brescia, ASST Spedali Civili di Brescia, Italy.

Epidermolysis bullosa (EB) refers to a group of inherited disorders characterized by skin and mucous membrane fragility. This report presents the case of a 61-year-old Italian male with a localized variant of junctional epidermolysis bullosa (JEB) linked to the R795X mutation in the COL17A1 gene. The patient presented with bullous lesions, erosions, scars, and pigmentary changes on the pretibial areas and dystrophic nails. Genetic analysis confirmed the presence of the COL17A1 variant p.Arg795Ter (R795X) mutation, establishing a rare, localized variant of JEB. This case underscores the criticality of early and accurate diagnosis in the management of rare genetic disorders, as misdiagnosis can lead to ineffective treatments.

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Citations

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Localized variant of junctional epidermolysis bullosa with R795X mutation. (2025). Dermatology Reports. https://doi.org/10.4081/dr.2025.10127
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